Recent Advances and Current Dilemmas in the Diagnosis and Management of Transthyretin Cardiac Amyloidosis

Abstract

Abstract Cardiac amyloidosis (CA) is an increasingly recognized cause of heart failure, arrhythmias, and sudden cardiac death. While CA was previously rapidly fatal, recent advances in diagnosis and treatment have significantly improved outcomes. Advances in cardiac imaging and biomarkers have critically improved the accuracy and efficiency with which CA is diagnosed, even allowing for the noninvasive diagnosis of transthyretin CA. Cardiac magnetic resonance imaging, technetium nuclear imaging, echocardiography, and blood‐based biomarkers have established important and complementary roles in the management and advancement of care. At the same time, the development of novel targeted amyloid therapies has allowed patients with CA to live longer and potentially achieve better quality of life. Still, despite this significant progress, there remain critical ongoing questions in the field. Accordingly, within this review we will highlight recent advances in cardiac imaging and therapeutics for CA, while focusing on key opportunities for further optimization of care and outcomes among this growing population. Specifically, we will discuss ongoing debates in the diagnosis of CA, including the interpretation of indeterminate cardiac imaging findings, the best technique to screen asymptomatic transthyretin amyloidosis gene mutation carriers for cardiac involvement, and the ideal method for monitoring response to CA treatment. We will additionally focus on recent advances in treatment for transthyretin amyloidosis‐CA, including a discussion of available agents as well as highlighting ongoing clinical trials. Together, these data will allow clinicians to emerge with a greater understanding of the present and future of diagnosis, management, and potentially enhanced outcomes in this rapidly advancing field.